SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS376840764 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS376841327 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376842066 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS376844297 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS376844749 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS376846065 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS376848848 COQ6 Health Risk Pathogenic/Likely pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial cancer of breast
RS376849181 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376850595 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS376851030 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS376851470 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS376851893 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS376854079 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS376854255 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Retinal dystrophy
RS376854556 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS376854895 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS376855018 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS376855404 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS376855484 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS376855629 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376856126 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS376856980 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS376856990 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376857772 TTN Health Risk Conflicting classifications of pathogenicity —
RS376857956 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial fibrillation
RS376858770 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS376858983 TANC2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS376861755 VPS13C Health Risk Likely pathogenic VPS13C-related disorder, VPS13C-related disorder
RS376862533 FAT2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 45, Spinocerebellar ataxia 45
RS376863164 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS376864621 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS376865199 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS376865596 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376866470 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376867329 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS376867651 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS376867722 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes
RS376867823 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS376867928 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS376868157 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376868221 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, ROGDI-related disorder
RS376868416 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS376870149 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376870184 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS376870425 GALNT2 Health Risk Likely pathogenic Congenital disorder of glycosylation, type iit
RS376870683 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS376870775 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS376872829 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS376874393 RECQL4 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS376874848 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS376874956 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS376875223 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376875568 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS376875887 HDAC6 Health Risk Conflicting classifications of pathogenicity X-linked dominant chondrodysplasia, Chassaing-Lacombe type
RS376876153 HADH Health Risk Uncertain significance/Uncertain risk allele Hyperinsulinemic hypoglycemia, familial
RS376877146 NLGN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS376877634 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS376879175 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS376881116 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS376881525 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS376881608 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS376881697 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS376881824 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS376882053 GATAD2B Health Risk Conflicting classifications of pathogenicity —
RS376882399 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS376882470 XDH Health Risk Likely pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS376882637 TRIP13 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3
RS376883207 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS376883350 PDE6B Health Risk Conflicting classifications of pathogenicity —
RS376885398 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS376886165 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS376886420 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS376886668 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS376888531 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS376889935 GYS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376891338 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS376891541 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS376891597 DNAJC19 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 5, Inborn genetic diseases
RS376891838 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS376892534 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS376893571 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS376893919 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS376894444 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Retinitis pigmentosa
RS376894729 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS376895274 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS376895610 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376895980 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS376896097 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism spectrum disorder
RS376896311 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS376897125 MYH7 Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS376897491 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376898099 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376898131 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS376898203 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376898612 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS376898963 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS376899412 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS376899610 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS376899782 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS376900021 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
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